Jing Guo, Teng Li, Liang Liang, Wei Wei, Yan Li, Weilin Guo, Youqiong Li
{"title":"利用第三代测序技术从一名中国新生儿体内鉴定出α-球蛋白基因簇中一个 145 kb 的新缺失(贵港缺失,-Guigang)。","authors":"Jing Guo, Teng Li, Liang Liang, Wei Wei, Yan Li, Weilin Guo, Youqiong Li","doi":"10.1080/16078454.2024.2412949","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To describe a novel α-thalassemiadeletion identified from a newborn by third-generation sequencing (TGS).</p><p><strong>Case report: </strong>The proband, a newborn subject to neonatal capillary electrophoresis (CE) screening, exhibited suspected α<sup>0</sup>-thalassemia carrier status (Hb Bart's 3.0%). Notably, both parents had negative results on thalassemia screening during pregnancy. Multiplex ligation-dependent probe amplification (MLPA) presented a deletion between probes 364nt and 472 nt that extended from the <i>HBZ</i> gene to the downstream region of the <i>RGS11</i> gene. Subsequently, TGS determined the approximated break position of this deletion, indicating a length exceeding 145 kb (chr16:127,815-273,190 del 145376 bp). Sanger sequencing validated the upstream and downstream breakpoints of this deletion. Only maternal data were available for pedigree analysis, with the father's sample lacking. MLPA showed no deletion in the mother, suggesting possible paternal inheritance. The deletion was named Guigang deletion (--<sup>Guigang</sup>) after the proband's city of origin, Guigang.</p><p><strong>Conclusions: </strong>We reported a novel α-thalassemiadeletion and provided insights into the hematological phenotype and molecular analysis. These findings have implications for genetic counseling and prenatal diagnosis.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":null,"pages":null},"PeriodicalIF":2.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identification of a novel 145 kb deletion (Guigang deletion, -<sup>Guigang</sup>) in the alpha-globin gene cluster from a Chinese newborn using third-generation sequencing.\",\"authors\":\"Jing Guo, Teng Li, Liang Liang, Wei Wei, Yan Li, Weilin Guo, Youqiong Li\",\"doi\":\"10.1080/16078454.2024.2412949\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To describe a novel α-thalassemiadeletion identified from a newborn by third-generation sequencing (TGS).</p><p><strong>Case report: </strong>The proband, a newborn subject to neonatal capillary electrophoresis (CE) screening, exhibited suspected α<sup>0</sup>-thalassemia carrier status (Hb Bart's 3.0%). Notably, both parents had negative results on thalassemia screening during pregnancy. Multiplex ligation-dependent probe amplification (MLPA) presented a deletion between probes 364nt and 472 nt that extended from the <i>HBZ</i> gene to the downstream region of the <i>RGS11</i> gene. Subsequently, TGS determined the approximated break position of this deletion, indicating a length exceeding 145 kb (chr16:127,815-273,190 del 145376 bp). Sanger sequencing validated the upstream and downstream breakpoints of this deletion. Only maternal data were available for pedigree analysis, with the father's sample lacking. MLPA showed no deletion in the mother, suggesting possible paternal inheritance. The deletion was named Guigang deletion (--<sup>Guigang</sup>) after the proband's city of origin, Guigang.</p><p><strong>Conclusions: </strong>We reported a novel α-thalassemiadeletion and provided insights into the hematological phenotype and molecular analysis. These findings have implications for genetic counseling and prenatal diagnosis.</p>\",\"PeriodicalId\":13161,\"journal\":{\"name\":\"Hematology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hematology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/16078454.2024.2412949\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/9 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hematology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/16078454.2024.2412949","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/9 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Identification of a novel 145 kb deletion (Guigang deletion, -Guigang) in the alpha-globin gene cluster from a Chinese newborn using third-generation sequencing.
Objective: To describe a novel α-thalassemiadeletion identified from a newborn by third-generation sequencing (TGS).
Case report: The proband, a newborn subject to neonatal capillary electrophoresis (CE) screening, exhibited suspected α0-thalassemia carrier status (Hb Bart's 3.0%). Notably, both parents had negative results on thalassemia screening during pregnancy. Multiplex ligation-dependent probe amplification (MLPA) presented a deletion between probes 364nt and 472 nt that extended from the HBZ gene to the downstream region of the RGS11 gene. Subsequently, TGS determined the approximated break position of this deletion, indicating a length exceeding 145 kb (chr16:127,815-273,190 del 145376 bp). Sanger sequencing validated the upstream and downstream breakpoints of this deletion. Only maternal data were available for pedigree analysis, with the father's sample lacking. MLPA showed no deletion in the mother, suggesting possible paternal inheritance. The deletion was named Guigang deletion (--Guigang) after the proband's city of origin, Guigang.
Conclusions: We reported a novel α-thalassemiadeletion and provided insights into the hematological phenotype and molecular analysis. These findings have implications for genetic counseling and prenatal diagnosis.
期刊介绍:
Hematology is an international journal publishing original and review articles in the field of general hematology, including oncology, pathology, biology, clinical research and epidemiology. Of the fixed sections, annotations are accepted on any general or scientific field: technical annotations covering current laboratory practice in general hematology, blood transfusion and clinical trials, and current clinical practice reviews the consensus driven areas of care and management.